Muscle carnitine deficiency in old age: Case report and therapeutic results
A muscle carnitine deficiency was discovered in a 67-year-old retired factory worker with a clinical picture of late-onset myopathy. The diagnosis was made by muscle biopsy and free carnitine assay. Therapy including a medium chain triglycerides diet and 6 g/day of D, L-carnitine per os produced a r...
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| Veröffentlicht in: | Clinical neurology and neurosurgery 1985, Vol.87 (4), p.275-281 |
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| container_end_page | 281 |
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| container_issue | 4 |
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| container_title | Clinical neurology and neurosurgery |
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| creator | Martin, J.J. Vercruyssen, A. de Barsy, T. Ceuterick, C. |
| description | A muscle carnitine deficiency was discovered in a 67-year-old retired factory worker with a clinical picture of late-onset myopathy. The diagnosis was made by muscle biopsy and free carnitine assay.
Therapy including a medium chain triglycerides diet and 6 g/day of D, L-carnitine per os produced a remarkable clinical improvement confirmed by a control muscle biopsy 15 months later.
Our patient is the oldest one described with muscle carnitine deficiency. The differential diagnosis of a late-onset myopathy should include lipid myopathies, some of which can be treated successfully. |
| doi_str_mv | 10.1016/0303-8467(85)90135-0 |
| format | Article |
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Therapy including a medium chain triglycerides diet and 6 g/day of D, L-carnitine per os produced a remarkable clinical improvement confirmed by a control muscle biopsy 15 months later.
Our patient is the oldest one described with muscle carnitine deficiency. The differential diagnosis of a late-onset myopathy should include lipid myopathies, some of which can be treated successfully.</description><identifier>ISSN: 0303-8467</identifier><identifier>EISSN: 1872-6968</identifier><identifier>DOI: 10.1016/0303-8467(85)90135-0</identifier><identifier>PMID: 4092408</identifier><identifier>CODEN: CNNSBV</identifier><language>eng</language><publisher>Amsterdam: Elsevier B.V</publisher><subject>Aged ; Biological and medical sciences ; Biopsy ; carnitine ; Carnitine - deficiency ; Electromyography ; Errors of metabolism ; Humans ; late-onset myopathy ; Lipid Metabolism ; Lipid Metabolism, Inborn Errors - pathology ; Lipids (lysosomal enzyme disorders, storage diseases) ; Male ; Medical sciences ; Metabolic diseases ; Microscopy, Electron ; Mitochondria, Muscle - ultrastructure ; muscle biopsy ; muscle carnitine deficiency ; Muscles - pathology ; Muscular Atrophy - pathology ; Neuromuscular Diseases - pathology ; Vacuoles - ultrastructure</subject><ispartof>Clinical neurology and neurosurgery, 1985, Vol.87 (4), p.275-281</ispartof><rights>1985</rights><rights>1986 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/0303846785901350$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,4010,27900,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=8664702$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/4092408$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Martin, J.J.</creatorcontrib><creatorcontrib>Vercruyssen, A.</creatorcontrib><creatorcontrib>de Barsy, T.</creatorcontrib><creatorcontrib>Ceuterick, C.</creatorcontrib><title>Muscle carnitine deficiency in old age: Case report and therapeutic results</title><title>Clinical neurology and neurosurgery</title><addtitle>Clin Neurol Neurosurg</addtitle><description>A muscle carnitine deficiency was discovered in a 67-year-old retired factory worker with a clinical picture of late-onset myopathy. The diagnosis was made by muscle biopsy and free carnitine assay.
Therapy including a medium chain triglycerides diet and 6 g/day of D, L-carnitine per os produced a remarkable clinical improvement confirmed by a control muscle biopsy 15 months later.
Our patient is the oldest one described with muscle carnitine deficiency. The differential diagnosis of a late-onset myopathy should include lipid myopathies, some of which can be treated successfully.</description><subject>Aged</subject><subject>Biological and medical sciences</subject><subject>Biopsy</subject><subject>carnitine</subject><subject>Carnitine - deficiency</subject><subject>Electromyography</subject><subject>Errors of metabolism</subject><subject>Humans</subject><subject>late-onset myopathy</subject><subject>Lipid Metabolism</subject><subject>Lipid Metabolism, Inborn Errors - pathology</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Microscopy, Electron</subject><subject>Mitochondria, Muscle - ultrastructure</subject><subject>muscle biopsy</subject><subject>muscle carnitine deficiency</subject><subject>Muscles - pathology</subject><subject>Muscular Atrophy - pathology</subject><subject>Neuromuscular Diseases - pathology</subject><subject>Vacuoles - ultrastructure</subject><issn>0303-8467</issn><issn>1872-6968</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1985</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9kc1LxDAQxYMo67r6HyjkIKKH6qQfaepBkMUvXPGy95AmU41025qkwv73dnfLngbe-83AvEfIOYNbBozfQQJJJFKeX4vspgCWZBEckCkTeRzxgotDMt0jx-TE-x8ASBIuJmSSQhGnIKbk_aP3ukaqlWtssA1Sg5XVFhu9prahbW2o-sJ7OlceqcOudYGqxtDwjU512AerB9n3dfCn5KhStcezcc7I8vlpOX-NFp8vb_PHRYRxASHSiIxVpVZM5TEr8ywXScm1EXFpFKQxz0qjeZmKvGCVgmGnZImoMOOQZplJZuRqd7Zz7W-PPsiV9RrrWjXY9l7mnAOPGQzgxQj25QqN7JxdKbeW4_ODfzn6ymtVV0412vo9JjhPc4gH7GGH4fDTn0Un_TYfNNahDtK0VjKQm07kJnC5CVyKTG47GaR_Rj98mA</recordid><startdate>1985</startdate><enddate>1985</enddate><creator>Martin, J.J.</creator><creator>Vercruyssen, A.</creator><creator>de Barsy, T.</creator><creator>Ceuterick, C.</creator><general>Elsevier B.V</general><general>Elsevier Science</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>1985</creationdate><title>Muscle carnitine deficiency in old age: Case report and therapeutic results</title><author>Martin, J.J. ; Vercruyssen, A. ; de Barsy, T. ; Ceuterick, C.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-e290t-cee11fbca1a721b75783b6cd82bda04265bdc6b48791fa0290b138fe560455d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1985</creationdate><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>Biopsy</topic><topic>carnitine</topic><topic>Carnitine - deficiency</topic><topic>Electromyography</topic><topic>Errors of metabolism</topic><topic>Humans</topic><topic>late-onset myopathy</topic><topic>Lipid Metabolism</topic><topic>Lipid Metabolism, Inborn Errors - pathology</topic><topic>Lipids (lysosomal enzyme disorders, storage diseases)</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Microscopy, Electron</topic><topic>Mitochondria, Muscle - ultrastructure</topic><topic>muscle biopsy</topic><topic>muscle carnitine deficiency</topic><topic>Muscles - pathology</topic><topic>Muscular Atrophy - pathology</topic><topic>Neuromuscular Diseases - pathology</topic><topic>Vacuoles - ultrastructure</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Martin, J.J.</creatorcontrib><creatorcontrib>Vercruyssen, A.</creatorcontrib><creatorcontrib>de Barsy, T.</creatorcontrib><creatorcontrib>Ceuterick, C.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical neurology and neurosurgery</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Martin, J.J.</au><au>Vercruyssen, A.</au><au>de Barsy, T.</au><au>Ceuterick, C.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Muscle carnitine deficiency in old age: Case report and therapeutic results</atitle><jtitle>Clinical neurology and neurosurgery</jtitle><addtitle>Clin Neurol Neurosurg</addtitle><date>1985</date><risdate>1985</risdate><volume>87</volume><issue>4</issue><spage>275</spage><epage>281</epage><pages>275-281</pages><issn>0303-8467</issn><eissn>1872-6968</eissn><coden>CNNSBV</coden><abstract>A muscle carnitine deficiency was discovered in a 67-year-old retired factory worker with a clinical picture of late-onset myopathy. The diagnosis was made by muscle biopsy and free carnitine assay.
Therapy including a medium chain triglycerides diet and 6 g/day of D, L-carnitine per os produced a remarkable clinical improvement confirmed by a control muscle biopsy 15 months later.
Our patient is the oldest one described with muscle carnitine deficiency. The differential diagnosis of a late-onset myopathy should include lipid myopathies, some of which can be treated successfully.</abstract><cop>Amsterdam</cop><pub>Elsevier B.V</pub><pmid>4092408</pmid><doi>10.1016/0303-8467(85)90135-0</doi><tpages>7</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0303-8467 |
| ispartof | Clinical neurology and neurosurgery, 1985, Vol.87 (4), p.275-281 |
| issn | 0303-8467 1872-6968 |
| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals Complete |
| subjects | Aged Biological and medical sciences Biopsy carnitine Carnitine - deficiency Electromyography Errors of metabolism Humans late-onset myopathy Lipid Metabolism Lipid Metabolism, Inborn Errors - pathology Lipids (lysosomal enzyme disorders, storage diseases) Male Medical sciences Metabolic diseases Microscopy, Electron Mitochondria, Muscle - ultrastructure muscle biopsy muscle carnitine deficiency Muscles - pathology Muscular Atrophy - pathology Neuromuscular Diseases - pathology Vacuoles - ultrastructure |
| title | Muscle carnitine deficiency in old age: Case report and therapeutic results |
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